avc3 Gene Detail

Summary

• Symbol
  avc3
• Name
  atrioventricular canal 3

• Feature Type
  heritable phenotypic marker
• IDs
  MGI:4821841
• Alliance
  gene page

Location &
Maps

• Sequence Map
  Chr9:63511158-68736303 bp

  From MGI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 9, Syntenic
• Mapping Data
  1 experiment

Human Diseases

• Diseases
  1 with avc3 mouse models

Human Disease

Mouse Models

atrioventricular septal defect

IDs

atrioventricular septal defect      

DOID:0050651
ICD10CM:Q21.2
ICD9CM:745.6
ICD9CM:745.60
MESH:D004694
OMIM:606215
OMIM:614430
OMIM:614474
ORDO:98722
UMLS_CUI:C0014116

View 1 model

Mouse Models

Human Disease Modeled: atrioventricular septal defect

Allelic Composition	Genetic Background	Reference	Phenotypes
avc3/avc3	involves: C57BL/6J * FVB/N	J:163196	View

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  1 with disease annotations

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  4 phenotypes from 1 allele in 1 genetic background
  2 phenotype references
  

• All Mutations and Alleles
  1
• Chemically induced (ENU)
  1
• Find Mice (IMSR)
  0 strains or lines available

Mice homozygous for an ENU-induced allele exhibit perinatal lethality associated with atrioventricular septal defects.

References

• Summaries
  All 2

  Diseases 1

  Phenotypes 2
• Earliest
  J:163196 Kamp A, et al., Genome-wide identification of mouse congenital heart disease loci. Hum Mol Genet. 2010 Aug 15;19(16):3105-13
• Latest
  J:237132 Burnicka-Turek O, et al., Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. Hum Mol Genet. 2016 Jul 15;25(14):3011-3028